Related gene-specific medical variations for Gene (Select 85301) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220911	NM_032888.4(COL27A1):c.4261-1G>A	COL27A1	Single nucleotide variant (splice acceptor variant)	Steel syndrome	GPathogenic
Select item 3147532	NM_032888.4(COL27A1):c.4199G>A (p.Gly1400Asp)	COL27A1, LOC126860736 (G1400D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147531	NM_032888.4(COL27A1):c.4105G>A (p.Glu1369Lys)	COL27A1, LOC126860736 (E1369K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147530	NM_032888.4(COL27A1):c.4042C>T (p.Arg1348Trp)	COL27A1, LOC126860736 (R1348W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147529	NM_032888.4(COL27A1):c.4004A>G (p.Asp1335Gly)	COL27A1, LOC126860736 (D1335G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023571	NM_032888.4(COL27A1):c.4099-15C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022570	NM_032888.4(COL27A1):c.4152+20C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019298	NM_032888.4(COL27A1):c.4153-12C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016492	NM_032888.4(COL27A1):c.4044+23_4044+31del	COL27A1, LOC126860736	Deletion (intron variant)	not provided	GLikely benign
Select item 2991807	NM_032888.4(COL27A1):c.4152+15G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983892	NM_032888.4(COL27A1):c.4206+11C>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981126	NM_032888.4(COL27A1):c.4098+16C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970559	NM_032888.4(COL27A1):c.4152+10G>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967938	NM_032888.4(COL27A1):c.4099-18T>C	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964253	NM_032888.4(COL27A1):c.4045-17T>C	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904946	NM_032888.4(COL27A1):c.4044+13C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902602	NM_032888.4(COL27A1):c.3988-16G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899567	NM_032888.4(COL27A1):c.4206+16G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892273	NM_032888.4(COL27A1):c.4153-13C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889357	NM_032888.4(COL27A1):c.4143G>A (p.Gln1381=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886282	NM_032888.4(COL27A1):c.4098+20C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885278	NM_032888.4(COL27A1):c.4146C>A (p.Gly1382=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864649	NM_032888.4(COL27A1):c.4044+10_4044+11insG	COL27A1, LOC126860736	Insertion (intron variant)	not provided	GLikely benign
Select item 2849791	NM_032888.4(COL27A1):c.4045-9G>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846599	NM_032888.4(COL27A1):c.4152+7G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842862	NM_032888.4(COL27A1):c.4047C>T (p.Gly1349=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777438	NM_032888.4(COL27A1):c.4206+20A>C	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753045	NM_032888.4(COL27A1):c.3988-18C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743325	NM_032888.4(COL27A1):c.3988-18C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742558	NM_032888.4(COL27A1):c.4206+11C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741750	NM_032888.4(COL27A1):c.4099-4C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703681	NM_032888.4(COL27A1):c.3988-5C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2540463	NM_032888.4(COL27A1):c.4012G>T (p.Ala1338Ser)	COL27A1, LOC126860736 (A1338S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440281	NM_032888.4(COL27A1):c.4441G>A (p.Gly1481Ser)	COL27A1 (G1481S)	Single nucleotide variant (missense variant)	Steel syndrome	GUncertain significance
Select item 2440280	NM_032888.4(COL27A1):c.3754G>T (p.Gly1252Cys)	COL27A1 (G1252C)	Single nucleotide variant (missense variant)	Steel syndrome	GUncertain significance
Select item 2439329	NM_032888.4(COL27A1):c.358C>T (p.Gln120Ter)	COL27A1 (Q120*)	Single nucleotide variant (nonsense)	Steel syndrome	GLikely pathogenic
Select item 2201390	NM_032888.4(COL27A1):c.4156C>T (p.His1386Tyr)	COL27A1, LOC126860736 (H1386Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2199488	NM_032888.4(COL27A1):c.4200C>T (p.Gly1400=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2195126	NM_032888.4(COL27A1):c.4069C>T (p.Arg1357Cys)	COL27A1, LOC126860736 (R1357C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185847	NM_032888.4(COL27A1):c.4099-8G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174572	NM_032888.4(COL27A1):c.4206+10_4206+11insG	COL27A1, LOC126860736	Insertion (intron variant)	not provided	GLikely benign
Select item 2168591	NM_032888.4(COL27A1):c.4006G>A (p.Gly1336Ser)	COL27A1, LOC126860736 (G1336S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157672	NM_032888.4(COL27A1):c.4193C>G (p.Ser1398Trp)	COL27A1, LOC126860736 (S1398W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155768	NM_032888.4(COL27A1):c.4169G>C (p.Arg1390Pro)	COL27A1, LOC126860736 (R1390P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153145	NM_032888.4(COL27A1):c.4178C>T (p.Pro1393Leu)	COL27A1, LOC126860736 (P1393L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2148584	NM_032888.4(COL27A1):c.4098+15T>C	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2147861	NM_032888.4(COL27A1):c.4123C>T (p.Arg1375Cys)	COL27A1, LOC126860736 (R1375C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140370	NM_032888.4(COL27A1):c.3995A>G (p.Gln1332Arg)	COL27A1, LOC126860736 (Q1332R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112756	NM_032888.4(COL27A1):c.4099-7C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109018	NM_032888.4(COL27A1):c.4122C>G (p.Leu1374=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094959	NM_032888.4(COL27A1):c.4153-12C>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085906	NM_032888.4(COL27A1):c.4168C>T (p.Arg1390Trp)	COL27A1, LOC126860736 (R1390W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077065	NM_032888.4(COL27A1):c.4164A>C (p.Gly1388=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069090	NM_032888.4(COL27A1):c.4098+7A>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036408	NM_032888.4(COL27A1):c.4114C>T (p.Gln1372Ter)	COL27A1, LOC126860736 (Q1372*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2034642	NM_032888.4(COL27A1):c.4193C>A (p.Ser1398Ter)	COL27A1, LOC126860736 (S1398*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2024468	NM_032888.4(COL27A1):c.4149A>G (p.Gln1383=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010026	NM_032888.4(COL27A1):c.4167C>G (p.Pro1389=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002976	NM_032888.4(COL27A1):c.4168C>A (p.Arg1390=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994580	NM_032888.4(COL27A1):c.3988-15G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974874	NM_032888.4(COL27A1):c.4045-5T>C	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679341	NM_032888.4(COL27A1):c.4020del (p.Pro1342fs)	COL27A1, LOC126860736 (P1342fs)	Deletion (frameshift variant)	Steel syndrome	GLikely pathogenic
Select item 1672641	NM_032888.4(COL27A1):c.4203A>C (p.Ala1401=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671883	NM_032888.4(COL27A1):c.3988-4A>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657111	NM_032888.4(COL27A1):c.4153-4G>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625850	NM_032888.4(COL27A1):c.4099-18TC[4]	LOC126860736, COL27A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1624147	NM_032888.4(COL27A1):c.4152+14C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608899	NM_032888.4(COL27A1):c.4099-8G>C	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599041	NM_032888.4(COL27A1):c.4044+19C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1597924	NM_032888.4(COL27A1):c.4206+12G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1575862	NM_032888.4(COL27A1):c.4206+10_4206+11inv	COL27A1, LOC126860736	Inversion (intron variant)	not provided	GLikely benign
Select item 1569358	NM_032888.4(COL27A1):c.4045-9G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554151	NM_032888.4(COL27A1):c.4042C>A (p.Arg1348=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551083	NM_032888.4(COL27A1):c.3996G>A (p.Gln1332=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549740	NM_032888.4(COL27A1):c.4206+14G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542500	NM_032888.4(COL27A1):c.4153-14A>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541887	NM_032888.4(COL27A1):c.3990G>A (p.Gly1330=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541088	NM_032888.4(COL27A1):c.4079C>T (p.Pro1360Leu)	LOC126860736, COL27A1 (P1360L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1529473	NM_032888.4(COL27A1):c.4026T>C (p.Pro1342=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520449	NM_032888.4(COL27A1):c.4121T>C (p.Leu1374Pro)	COL27A1, LOC126860736 (L1374P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455677	NM_032888.4(COL27A1):c.4025del (p.Pro1342fs)	COL27A1, LOC126860736 (P1342fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1399527	NM_032888.4(COL27A1):c.4068C>A (p.Asp1356Glu)	COL27A1, LOC126860736 (D1356E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394918	NM_032888.4(COL27A1):c.4120C>G (p.Leu1374Val)	COL27A1, LOC126860736 (L1374V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1388471	NM_032888.4(COL27A1):c.4152+8G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1334897	NM_032888.4(COL27A1):c.4060C>T (p.Arg1354Ter)	COL27A1, LOC126860736 (R1354*)	Single nucleotide variant (nonsense)	Steel syndrome +1 more	GPathogenic
Select item 1322126	NM_032888.4(COL27A1):c.3294+1G>C	COL27A1	Single nucleotide variant (splice donor variant)	Steel syndrome	GPathogenic
Select item 1185240	NM_032888.4(COL27A1):c.4206+39A>G	LOC126860736, COL27A1	Single nucleotide variant (intron variant)	Steel syndrome	GBenign
Select item 1185239	NM_032888.4(COL27A1):c.4206+11C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	Steel syndrome +1 more	GBenign
Select item 1185238	NM_032888.4(COL27A1):c.4152+24C>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	Steel syndrome	GBenign
Select item 1166356	NM_032888.4(COL27A1):c.4083A>G (p.Gly1361=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	Steel syndrome +1 more	GBenign
Select item 1165180	NM_032888.4(COL27A1):c.4061G>A (p.Arg1354Gln)	COL27A1, LOC126860736 (R1354Q)	Single nucleotide variant (missense variant)	Steel syndrome +1 more	GBenign
Select item 1164442	NM_032888.4(COL27A1):c.4107G>A (p.Glu1369=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1164441	NM_032888.4(COL27A1):c.4043G>A (p.Arg1348Gln)	COL27A1, LOC126860736 (R1348Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1158702	NM_032888.4(COL27A1):c.4008C>A (p.Gly1336=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156882	NM_032888.4(COL27A1):c.4092G>A (p.Gly1364=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153473	NM_032888.4(COL27A1):c.4017G>A (p.Glu1339=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143729	NM_032888.4(COL27A1):c.4140G>A (p.Gln1380=)	LOC126860736, COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1140286	NM_032888.4(COL27A1):c.4078C>A (p.Pro1360Thr)	COL27A1, LOC126860736 (P1360T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1136497	NM_032888.4(COL27A1):c.4194G>A (p.Ser1398=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1129977	NM_032888.4(COL27A1):c.4173G>A (p.Gly1391=)	COL27A1, LOC126860736	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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